碳水化合物缺乏糖蛋白综合征；多种异常及诊断延迟。
Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.
作者信息
Hutchesson A C, Gray R G, Spencer D A, Keir G
机构信息
Birmingham Children's Hospital, Department of Clinical Chemistry.
出版信息
Arch Dis Child. 1995 May;72(5):445-6. doi: 10.1136/adc.72.5.445.
Abstract
A 3 week old boy presented with abnormal thyroid function, and was treated with thyroxine. He developed multisystem disease including deafness and nephrotic syndrome, and died aged 3 months. Carbohydrate deficient glycoprotein syndrome (CDGS) was diagnosed post-mortem. CDGS should be considered in all infants with apparently unrelated multiple clinical or biochemical abnormalities.
摘要
一名3周大的男婴出现甲状腺功能异常，接受了甲状腺素治疗。他发展为包括耳聋和肾病综合征在内的多系统疾病，并在3个月大时死亡。死后诊断为糖蛋白缺乏综合征（CDGS）。对于所有患有明显不相关的多种临床或生化异常的婴儿，都应考虑CDGS。
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本文引用的文献
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The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?碳水化合物缺乏糖蛋白综合征：高尔基体前体和高尔基体疾病？
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